Product Details

SNP ID

rs200893930

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:136496094 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTTACTTGAAGGCCTCCGGAATGC[A/G]GGCGATCTGGGACTGCATGCTGGTG

Phenotype

MIM: 190198

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NOTCH1 PubMed Links

Gene Details

Gene

NOTCH1

Gene Name

notch 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017617.4	6937	Missense Mutation	CGC,TGC	R2549C	NP_060087.3
XM_011518717.2	6937	Missense Mutation	CGC,TGC	R2308C	XP_011517019.2

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